Canonical Allele Identifier: CA1448041

Gene: AGT

Linked Data

• dbSNP Id: rs772779435
• ExAC: 1:230838964 G / C
• gnomAD v2: 1-230838964-G-C
• gnomAD v4: 1-230703218-G-C
• MyVariant Identifiers: chr1:g.230838964G>C (hg19) ; chr1:g.230703218G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230703218G>C , CM000663.2:g.230703218G>C	GRCh38
NC_000001.10:g.230838964G>C , CM000663.1:g.230838964G>C	GRCh37
NC_000001.9:g.228905587G>C	NCBI36
NG_008836.1:g.16373C>G
NG_008836.2:g.16373C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000366667.6:c.1354C>G MANE Select	ENSP00000355627.5:p.Leu452Val
ENST00000679738.1:c.1354C>G	ENSP00000505063.1:p.Leu452Val
ENST00000679802.1:c.*813C>G	ENSP00000505184.1:n.*813C>G
ENST00000679854.1:n.5659C>G
ENST00000679957.1:c.1345C>G	ENSP00000506646.1:p.Leu449Val
ENST00000680041.1:c.1354C>G	ENSP00000504866.1:p.Leu452Val
ENST00000680783.1:c.829+6777C>G	ENSP00000506329.1:n.829+6777C>G
ENST00000681269.1:c.1354C>G	ENSP00000505985.1:p.Leu452Val
ENST00000681347.1:n.3460C>G
ENST00000681514.1:c.1354C>G	ENSP00000505963.1:p.Leu452Val
ENST00000681772.1:c.*848C>G	ENSP00000505829.1:n.*848C>G
ENST00000366667.4:c.1381C>G	ENSP00000355627.4:p.Leu461Val
NM_000029.3:c.1381C>G	NP_000020.1:p.Leu461Val
NM_000029.4:c.1381C>G	NP_000020.1:p.Leu461Val
NM_001382817.3:c.1354C>G	NP_001369746.2:p.Leu452Val
NM_001384479.1:c.1354C>G MANE Select	NP_001371408.1:p.Leu452Val